Disorders of Sex Development: not Always Endocrine Disorders

Abstract

Congenital genital abnormalities are of a very complex pathology. In order to clarify their causes, it is important to revert to the genetic conditions and regulation of embryological development. The diagnostic criteria can be complex and costly. We report several patients with various isolated or multiple congenital malformations associated with ambiguous genitalia that can be elucidated by physical examination or condition specific investigations to highlight the importance of considering them in the differential diagnosis of DSD. The data was scrutinized from patients presented to Endocrine and Paediatric clinics at King Khalid University hospital (KKUH), Riyadh, Saudi Arabia, over two decades. Ninety-eight patients aged 1 day to 8 years were evaluated for DSD at KKUH between 1989-2010. Seventy percent (n=69 patients) were genetically females (46XX), while 29.6% (n=29 patients) had a male genetic sex (46XY). The majority of patients had congenital adrenal hyperplasia. However, 15.2% (n=15 patients) were diagnosed with isolated or multiple, syndromic or non-syndromic congenital anomalies. We conclude that, especially in a high consanguineous population, DSD can occur due to a wide spectrum of endocrine and non-endocrine causes. There is no substitute to careful history and physical examination in order to help the diagnosis and avoid unnecessary investigations.